Mutagenetix > Incidental Mutation

Incidental Mutation 'R8023:Or7e178'

617536

Institutional Source

Beutler Lab

Gene Symbol

Or7e178

Ensembl Gene

ENSMUSG00000066896

Gene Name

olfactory receptor family 7 subfamily E member 178

Synonyms

MTPCR34, MOR145-1, Olfr18, GA_x6K02T2PVTD-14054886-14053957

MMRRC Submission

067462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20225188-20247390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20225545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 224 (V224I)

Ref Sequence

ENSEMBL: ENSMUSP00000083664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086473] [ENSMUST00000212943]

AlphaFold

Q0VAX9

Predicted Effect

probably benign
Transcript: ENSMUST00000086473
AA Change: V224I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000083664
Gene: ENSMUSG00000066896
AA Change: V224I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	53	330	1.2e-54	PFAM
Pfam:7TM_GPCR_Srsx	57	234	3.2e-9	PFAM
Pfam:7tm_1	63	312	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212943
AA Change: V216I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	G	17: 57,152,448 (GRCm39)	Y665H	probably damaging	Het
Acte1	T	C	7: 143,445,528 (GRCm39)	S192P	probably damaging	Het
Agbl4	T	A	4: 111,474,345 (GRCm39)	V378E	probably benign	Het
Card9	T	C	2: 26,247,327 (GRCm39)	D274G	probably benign	Het
Ccnc	T	C	4: 21,747,578 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,533,847 (GRCm39)	S843A	unknown	Het
Cux1	T	A	5: 136,402,251 (GRCm39)	I111F	probably damaging	Het
Fam24b	A	C	7: 130,927,869 (GRCm39)	S107A	probably benign	Het
Fndc7	C	T	3: 108,774,461 (GRCm39)	C599Y	probably damaging	Het
Gm3604	G	A	13: 62,517,683 (GRCm39)	A225V	probably damaging	Het
Grhl3	A	G	4: 135,277,640 (GRCm39)	V475A	probably benign	Het
H2ac20	A	G	3: 96,128,106 (GRCm39)	S19P	unknown	Het
Heg1	T	A	16: 33,550,895 (GRCm39)	V958E	possibly damaging	Het
Hibch	T	C	1: 52,899,197 (GRCm39)	M30T	probably benign	Het
Hk2	T	A	6: 82,705,790 (GRCm39)	M838L	probably benign	Het
Hpd	A	G	5: 123,314,297 (GRCm39)	F206S	probably damaging	Het
Il34	C	T	8: 111,469,284 (GRCm39)	C177Y	probably damaging	Het
Il6ra	A	G	3: 89,820,260 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,088,988 (GRCm39)	I2240T	probably damaging	Het
Med24	A	G	11: 98,609,321 (GRCm39)		probably null	Het
Mpz	A	G	1: 170,987,602 (GRCm39)	D246G	probably damaging	Het
Ncam1	C	A	9: 49,421,057 (GRCm39)	A753S	probably benign	Het
Ndufs2	A	T	1: 171,064,263 (GRCm39)	M375K	probably damaging	Het
Obox2	A	G	7: 15,131,145 (GRCm39)	K84E	possibly damaging	Het
Or4c31	A	G	2: 88,292,022 (GRCm39)	I132V	probably benign	Het
Or51k1	A	G	7: 103,661,006 (GRCm39)	I301T	probably damaging	Het
Pds5a	A	T	5: 65,795,241 (GRCm39)	L665Q	probably damaging	Het
Prr29	A	G	11: 106,267,099 (GRCm39)	E38G	probably benign	Het
Ptpn3	G	C	4: 57,248,688 (GRCm39)	D215E	probably benign	Het
Ptprq	G	A	10: 107,488,477 (GRCm39)	Q987*	probably null	Het
Ranbp6	T	C	19: 29,789,222 (GRCm39)	S377G	possibly damaging	Het
Rps6ka1	A	T	4: 133,594,506 (GRCm39)	L168Q	probably damaging	Het
Sall1	A	G	8: 89,759,171 (GRCm39)	I311T	probably damaging	Het
Satb2	T	C	1: 56,930,390 (GRCm39)	Y211C	probably damaging	Het
Sis	T	A	3: 72,859,813 (GRCm39)	Y314F	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc6a20a	T	C	9: 123,489,657 (GRCm39)	N129D	probably damaging	Het
Slu7	G	A	11: 43,336,975 (GRCm39)	R572Q	probably benign	Het
Tbx6	C	T	7: 126,382,031 (GRCm39)	A123V	possibly damaging	Het
Tcn2	A	T	11: 3,877,579 (GRCm39)	I23K	possibly damaging	Het
Tiparp	A	G	3: 65,439,224 (GRCm39)	D180G	probably benign	Het
Tln2	A	G	9: 67,131,346 (GRCm39)	L1400P	probably damaging	Het
Ttf2	T	C	3: 100,863,571 (GRCm39)	T588A	probably benign	Het
Ttn	A	G	2: 76,769,564 (GRCm39)	V2741A	unknown	Het
Txlna	A	T	4: 129,533,278 (GRCm39)	S83R	probably damaging	Het
Vmn2r16	C	T	5: 109,488,272 (GRCm39)	Q382*	probably null	Het
Vmn2r76	A	G	7: 85,879,028 (GRCm39)	V424A	probably benign	Het
Zfc3h1	T	A	10: 115,256,553 (GRCm39)	L1508I	probably damaging	Het
Zfp189	G	A	4: 49,530,312 (GRCm39)	G472R	probably damaging	Het
Zfp462	G	A	4: 55,073,106 (GRCm39)		probably null	Het

Other mutations in Or7e178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Or7e178	APN	9	20,226,015 (GRCm39)	missense	probably damaging	1.00
IGL02412:Or7e178	APN	9	20,225,935 (GRCm39)	missense	probably benign
IGL03288:Or7e178	APN	9	20,247,207 (GRCm39)	critical splice donor site	probably null
IGL03395:Or7e178	APN	9	20,225,847 (GRCm39)	missense	probably damaging	1.00
R0332:Or7e178	UTSW	9	20,225,352 (GRCm39)	missense	probably benign	0.00
R0346:Or7e178	UTSW	9	20,225,707 (GRCm39)	missense	probably benign	0.20
R0569:Or7e178	UTSW	9	20,225,875 (GRCm39)	missense	probably damaging	1.00
R0798:Or7e178	UTSW	9	20,225,495 (GRCm39)	nonsense	probably null
R0865:Or7e178	UTSW	9	20,226,045 (GRCm39)	missense	probably damaging	1.00
R1082:Or7e178	UTSW	9	20,225,765 (GRCm39)	missense	possibly damaging	0.52
R1905:Or7e178	UTSW	9	20,226,142 (GRCm39)	missense	probably benign
R4245:Or7e178	UTSW	9	20,225,629 (GRCm39)	missense	possibly damaging	0.87
R5566:Or7e178	UTSW	9	20,225,265 (GRCm39)	missense	probably benign
R6306:Or7e178	UTSW	9	20,225,742 (GRCm39)	missense	probably benign	0.25
R6721:Or7e178	UTSW	9	20,225,576 (GRCm39)	missense	probably benign	0.24
R6787:Or7e178	UTSW	9	20,247,221 (GRCm39)	missense	probably benign
R6930:Or7e178	UTSW	9	20,225,395 (GRCm39)	missense	probably damaging	1.00
R7196:Or7e178	UTSW	9	20,225,494 (GRCm39)	missense	probably benign	0.38
R7711:Or7e178	UTSW	9	20,225,319 (GRCm39)	missense	possibly damaging	0.66
R8029:Or7e178	UTSW	9	20,225,643 (GRCm39)	missense	possibly damaging	0.59
R8050:Or7e178	UTSW	9	20,225,941 (GRCm39)	missense	probably damaging	1.00
R8058:Or7e178	UTSW	9	20,225,476 (GRCm39)	missense	probably damaging	0.99
R8159:Or7e178	UTSW	9	20,226,015 (GRCm39)	missense	possibly damaging	0.96
R8201:Or7e178	UTSW	9	20,225,908 (GRCm39)	missense	probably benign	0.10
R9022:Or7e178	UTSW	9	20,225,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTGGGAGACAAGGACACAG -3'
(R):5'- TGAACCCTCGTCTTTGTGGC -3'

Sequencing Primer
(F):5'- GCTGAACTGAGGTATACCCC -3'
(R):5'- CCCTCGTCTTTGTGGCTTGTTG -3'

Posted On

2020-01-23